BlueCross BlueShield of Tennessee Medical Policy Manual

DNA-Based Testing for Adolescent Idiopathic Scoliosis (AIS)


Adolescent idiopathic scoliosis (AIS) is a disease of unknown etiology that causes mild-to-severe spinal deformity in 1% to 3% of adolescents.  This disease occurs in otherwise healthy children with the onset of, and highly correlated with, the adolescent growth spurt.  Diagnosis is established by radiologic observation in adolescents (age 10 years until the age of skeletal maturity) of a lateral spine curvature of 10 degrees or more as measured using the Cobb angle.  The Cobb angle is defined as the angulation measured between the maximally tilted proximal and distal vertebrae of the curve. Curvature is considered mild (less than 25º), moderate (25º to 40º), or severe (more than 40º) in an individual still growing. Once diagnosed, individuals must be monitored over several years, usually with serial radiographs for curve progression. If the curve progresses, spinal bracing is the generally accepted first-line treatment. If the curve progresses in spite of bracing, spinal fusion may be recommended.  Curve progression has been linked to a number of factors, including sex, curve magnitude, age and skeletal maturity. About one quarter of individuals affected with AIS report a positive family history of the disease and twin studies have consistently supported shared genetic factors.  Classification tables for likelihood of progressive disease have been constructed to assist in the management of individuals with AIS.

The ScoliScore™ AIS prognostic DNA-based test uses an algorithm incorporating the results of testing 53 single-nucleotide polymorphism (SNP) markers with the individual’s presenting spinal curve (Cobb angle), to generate a risk score (range 1-200) to predict the likelihood of spinal curve progression.  The test is intended for white (Caucasian) individuals with a primary diagnosis of AIS between the ages of 9 and 13 years-old with a mild scoliotic curve (defined as under 25º).




Due to a lack of direct evidence demonstrating improved outcomes with the use of single-nucleotide polymorphisms (SNP)-based testing in individuals with AIS, this test is considered investigational.  Further research is required to determine clinical validity and clinical utility. 


BlueCross BlueShield Association. Medical Policy Reference Manual. (1:2017). DNA-based testing for adolescent idiopathic scoliosis (2.04.74). Retrieved January 3, 2018 from BlueWeb. (22 articles and/or guidelines reviewed)

Bohl, D.D., Telles, C.J., Ruiz, F.K., Badrinath, R., DeLuca, P.A., & Grauer, J.N. (2016). A genetic test predicts providence brace success for adolescent idiopathic scoliosis when failure is defined as progression to >45 degrees. Clinical Spine Surgery, 29 (3), E146-E150. Abstract retrieved February 14, 2017 from PubMed database.

Noshchenko, A., Hoffecker, L., Lindley, E., Burger, E., Cain, C., Patel, V., & Bradford, A. (2015). Predictors of spine deformity progression in adolescent idiopathic scoliosis: a systematic review with meta-analysis. World Journal of Orthopedics, 6 (7), 537-538. (Level 2 evidence)

Roye, B., Wright, M., Matsumoto, H., Yorgova, P., McCalla, D., Hyman, J., et al. (2015). An independent evaluation of the validity of a DNA-based prognostic test for adolescent idiopathic scoliosis. The Journal of Bone and Joint Surgery, 97 (24), 1994-1998. Abstract retrieved April 7, 2016 from PubMed database.

Roye, B., Wright, M., Williams, B., Matsumoto, H., Corona, J., Hyman, J., et al. (2012). Does ScoliScore provide more information than traditional clinical estimates of curve progression? Spine, 37 (25), 2099-2103. Abstract retrieved April 7, 2016 from PubMed database.

Ward, K, Ogilvie J, Singleton M et al. (2010). Validation of DNA-based prognostic testing to predict spinal curve progression in adolescent idiopathic scoliosis. Spine, 35 (25), E1455-E1464. (Level 4 evidence)

Winifred S. Hayes, Inc. Genetic Test Evaluation (GTE) Report. (2014, August). ScoliScore™ adolescent idiopathic scoliosis (AIS) prognostic test. Retrieved April 7, 2016 from (5 articles and/or guidelines reviewed)

Xu, L., Qin, X., Sun, W., Qiao, J., Qiu, Y., & Zhu, Z. (2016). Replication of association between 53 single-nucleotide polymorphisms in a DNA-based diagnostic test and AIS progression in Chinese Han population. Spine, 41 (4), 306-310. Abstract retrieved April 7, 2016 from PubMed database.




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